{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T18:49:30Z","timestamp":1791139770925,"version":"4.1.0"},"reference-count":29,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,5]]},"abstract":"Summary<\/jats:title>\n \n Background and objectives<\/jats:title>\n \n Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal tubular disease. It is caused by mutations in\n CLDN16<\/jats:italic>\n and\n CLDN19<\/jats:italic>\n , encoding claudin-16 and -19, respectively. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is usually complicated by progressive CKD. The objectives of this study were to describe the clinical and genetic features of familial hypomagnesemia with hypercalciuria and nephrocalcinosis and analyze phenotype\u2013genotype associations in patients with\n CLDN16<\/jats:italic>\n or\n CLDN19<\/jats:italic>\n mutations.\n <\/jats:p>\n <\/jats:sec>\n \n Design, setting, participants, & measurements<\/jats:title>\n \n Data from 32 genetically confirmed patients (9 patients with\n CLDN16<\/jats:italic>\n and 23 patients with\n CLDN19<\/jats:italic>\n mutations) from 26 unrelated families were retrospectively reviewed.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Diagnosis was based on clinical criteria at a median age of 9.5 years and confirmed by genetic testing at a median age of 15.5 years. In total, 13\n CLDN16<\/jats:italic>\n or\n CLDN19<\/jats:italic>\n mutations were identified, including 8 novel mutations. A founder effect was detected for the recurrent\n CLDN16<\/jats:italic>\n p.Ala139Val mutation in North African families and the\n CLDN19<\/jats:italic>\n p.Gly20Asp mutation in Spanish and French families. CKD was more frequently observed in patients with\n CLDN19<\/jats:italic>\n mutations: survival without CKD or ESRD was 56% at 20 years of age in\n CLDN19<\/jats:italic>\n versus 100% in\n CLDN16<\/jats:italic>\n mutations (log rank\n P<\/jats:italic>\n <0.01). Ocular abnormalities were observed in 91% of patients with\n CLDN19<\/jats:italic>\n mutations and none of the patients with\n CLDN16<\/jats:italic>\n mutations (\n P<\/jats:italic>\n <0.01). Treatments seem to have no effect on hypercalciuria and CKD progression.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Patients with\n CLDN19<\/jats:italic>\n mutations may display more severe renal impairment than patients with\n CLDN16<\/jats:italic>\n mutations. Ocular abnormalities were observed only in patients with\n CLDN19<\/jats:italic>\n mutations.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.2215\/cjn.12841211","type":"journal-article","created":{"date-parts":[[2012,3,15]],"date-time":"2012-03-15T22:23:49Z","timestamp":1331850229000},"page":"801-809","source":"Crossref","is-referenced-by-count":105,"title":["Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis"],"prefix":"10.2215","volume":"7","author":[{"given":"Astrid","family":"Godron","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00f4me","family":"Harambat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Boccio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Mensire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrien","family":"May","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Rigothier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lionel","family":"Couzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"Barrou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Godin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Chauveau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislas","family":"Faguer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Vallet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Cochat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Eckart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Guest","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Guigonis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Houillier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Blanchard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Jeunemaitre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Vargas-Poussou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-16-20230811","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/0026-0495(72)90025-X","article-title":"Decreased bicarbonate threshold and renal magnesium wasting in a sibship with distal renal tubular acidosis. 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